Cleft palate, and Cognitive impairment

Diseases related with Cleft palate and Cognitive impairment

In the following list you will find some of the most common rare diseases related to Cleft palate and Cognitive impairment that can help you solving undiagnosed cases.


Top matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44

Low match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Low match POPLITEAL PTERYGIUM SYNDROME; PPS


POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about POPLITEAL PTERYGIUM SYNDROME; PPS

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Other less relevant matches:

Low match KERATODERMA HEREDITARIUM MUTILANS


Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.

KERATODERMA HEREDITARIUM MUTILANS Is also known as khm|mutilating keratoderma|deafness, congenital, with keratopachydermia and constrictions of fingers and toes|vohwinkel syndrome|mutilating keratoderma of vohwinkel|mutilating keratoderma plus deafness|keratoderma hereditarium mutilans|ppk mutilans and de

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KERATODERMA HEREDITARIUM MUTILANS

Low match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME


Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Low match CENTRAL CORE DISEASE OF MUSCLE; CCD


Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Low match ISOLATED KLIPPEL-FEIL SYNDROME


Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Low match STROMME SYNDROME; STROMS


Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Low match NATIVE AMERICAN MYOPATHY


Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Low match CORNELIA DE LANGE SYNDROME 3; CDLS3


Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 3; CDLS3

Top 5 symptoms//phenotypes associated to Cleft palate and Cognitive impairment

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Cleft lip Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Cognitive impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Global developmental delay Myopathy High palate Abnormality of the skeletal system Polydactyly Hypertelorism Ptosis Low-set ears Growth delay Kyphoscoliosis Cleft upper lip Sensorineural hearing impairment Bifid uvula Micrognathia Flexion contracture

Rare Symptoms - Less than 30% cases


Muscle weakness Generalized hypotonia Downturned corners of mouth Kyphosis Cataract Motor delay Facial asymmetry Feeding difficulties Prominent nasal bridge Fever Skeletal muscle atrophy Respiratory insufficiency Areflexia Proximal muscle weakness Facial palsy Brachycephaly Talipes Generalized muscle weakness Myopathic facies Malignant hyperthermia Short palpebral fissure Short neck Conductive hearing impairment Abnormality of the pinna Seizures Arthrogryposis multiplex congenita Preaxial polydactyly Thin vermilion border Postnatal growth retardation Anteverted nares Depressed nasal bridge Talipes equinovarus Syndactyly Long philtrum Pes planus Cryptorchidism Abnormality of the kidney Intrauterine growth retardation Astigmatism Coloboma Malabsorption Wide mouth Hydronephrosis Pterygium Iris coloboma Microcornea Intestinal malrotation Prominent nose Cerebellar vermis hypoplasia Renal hypoplasia Optic nerve hypoplasia Short columella Sclerocornea Duodenal atresia Ectopia pupillae Deeply set eye Microphthalmia Agenesis of corpus callosum Fused cervical vertebrae Abnormality of the ribs Low posterior hairline Spina bifida Renal hypoplasia/aplasia Hemiplegia/hemiparesis Vertebral fusion Abnormality of the vertebral column Sprengel anomaly Abnormal cranial nerve morphology Ectopic anus Short sternum Cerebellar hypoplasia Abnormality of the shoulder Abnormal sacrum morphology Congenital muscular torticollis Aplasia of the ulna Cervical C2/C3 vertebral fusion Abnormal vertebral segmentation and fusion Decreased cervical spine mobility Limited neck range of motion Wide nasal bridge Hydrocephalus Peters anomaly Sex reversal Retinal vascular tortuosity Intestinal atresia Bulbous nose Clinodactyly Clinodactyly of the 5th finger Gastroesophageal reflux Thin upper lip vermilion Feeding difficulties in infancy Abnormal cardiac septum morphology Pulmonic stenosis Synophrys Poor speech Smooth philtrum Thick eyebrow Abnormality of the dentition Hirsutism Small hand Short foot Highly arched eyebrow Hypertrichosis Long eyelashes Low anterior hairline Finger clinodactyly Proximal placement of thumb Cutis marmorata Thick hair Behavioral abnormality Myopia Accessory spleen Telecanthus Webbed neck Bilateral renal hypoplasia Hypoplastic iris stroma Jejunal atresia Corneal astigmatism Epicanthus Downslanted palpebral fissures Ventriculomegaly Midface retrusion Pectus excavatum Hyporeflexia Blepharophimosis Brachydactyly Abnormality of the foot Long face Narrow forehead Open mouth Tented upper lip vermilion Congenital contracture Gowers sign Ankle contracture Restrictive deficit on pulmonary function testing Multiple skeletal anomalies Abnormal facial shape Wide intermamillary distance Flat occiput Postaxial polydactyly Abnormality of the spinal cord Hypogonadotrophic hypogonadism Osteolysis Mutism Palmoplantar hyperkeratosis Self-injurious behavior Abnormal toenail morphology Xanthomatosis Amniotic constriction ring Leukonychia Plantar hyperkeratosis Autoamputation of digits Thickened skin Ainhum Epidermal thickening Honeycomb palmoplantar keratoderma Toe syndactyly Dementia Dysphagia Blindness Dystonia Intellectual disability, mild Immunodeficiency Abnormality of the nail Palmoplantar keratoderma Velopharyngeal insufficiency Lower lip pit Hypoplasia of the uterus Cutaneous finger syndactyly Bilateral cleft lip Bilateral cleft lip and palate Hypoplastic labia majora Labial hypoplasia Ankyloblepharon Popliteal pterygium Hypoplasia of the vagina Abnormality of the scrotum Fibrous syngnathia Ichthyosis Absent scrotum Intercrural pterygium Pyramidal skinfold extending from the base to the top of the nails Scrotal hypoplasia Spina bifida occulta Abnormality of the genital system Alopecia Hyperkeratosis Papule Hypotrichosis Overgrowth High forehead Mental deterioration Flat face Type 1 muscle fiber predominance Muscle cramps Recurrent infections Decreased fetal movement Congenital hip dislocation Limb-girdle muscular dystrophy Ophthalmoparesis Dilatation Spinal rigidity Centrally nucleated skeletal muscle fibers Nemaline bodies Skeletal myopathy Muscular dystrophy Generalized limb muscle atrophy Stooped posture Minicore myopathy Hypertension Anemia Ventricular septal defect Abnormally large globe Abnormality of cardiovascular system morphology Submucous cleft hard palate Bifid scrotum Anal atresia Proteinuria Hip dislocation Small for gestational age Elevated serum creatinine Micromelia Oral cleft Neurodegeneration Macroglossia Generalized dystonia Mild global developmental delay Hypoplastic scapulae Bulbar signs Achalasia Externally rotated hips Gout Hypertrophic cardiomyopathy Hyperuricemia Focal segmental glomerulosclerosis Chronic kidney disease Fatigue Renal cyst Cardiomyopathy Neutropenia Hematuria Polyhydramnios Neonatal hypotonia Nephropathy Limited elbow movement



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